Objective To investigate the clinical application value of transrectal real-time tissue elastography(TRTE)guided targeted puncture in the diagnosis of prostate cancer.Methods A total of 52 patients with suspected prostate cancer who were treated in the First People's Hospital of Zhengzhou from January 2020 to December 2022 were selected as the study objects.Preoperative routine transrectal ultrasound and TRTE examination were performed to evaluate the benign and malignant prostates.For the 28 patients with suspected lesions found in TRTE,TRTE-guided targeted puncture(2 needles)+ systematic puncture(8 needles)were performed,for the 24 patients with no suspicious lesions found in TRTE,routine ultrasound-guided systematic puncture(12 needles)was performed.The efficacy of TRTE in the diagnosis of prostate cancer was analyzed and the positive rate of targeted puncture and systematic puncture was compared.Results In this study,25 cases of prostate cancer and 27 cases of benign lesions were ultimately pathologically diagnosed,while a total of 28 cases of prostate cancer and 24 cases of benign lesions were diagnosed with TRTE.The positive predictive value and negative predictive value of the diagnosis were 75.0%(21/28)and 83.3%(20/24),respectively.In 28 patients with suspected lesions found by TRTE,a total of 56 needles were targeted puncture,36 needles were diagnosed with prostate cancer,positive rate was 64.29%(36/56),and a total of 224 needles were systematic puncture,89 needles were diagnosed with prostate cancer,with a positive rate of 39.73%(89/224).The positive rate of prostate cancer by targeted puncture was significantly higher than that by systematic puncture(P<0.05).Conclusion TRTE can better diagnose prostate cancer,and its guided targeted puncture has a higher positive rate in the diagnosis of prostate cancer,which can maximize the positive rate of puncture while reducing the number of puncture needles.

Abstract Genetic diagnosis and etiological analysis were performed on a patient with hypoxic-ischemic encephalopathy at birth. MRI technology was used to examine the brain of the child. G-band karyotype analysis technology was used to analyze the karyotype of the child and her parents. Chromosomal microarray analysis(CMA) was used to analyze the entire genome of the child and her parents for chromosomal copy number variation(CNV) and to identify the small supernumerary marker chromosomes. The results of MRI supported the diagnosis of hypoxic-ischemic encephalopathy of the child and found the appearance of Dandy-Walker malformation. Karyotype analysis showed that the mother's karyotype was 46, XX, t(10; 13)(p11. 1; q11)[11]/46, XX[19]. The karyotype of the father was normal. The karyotype of the child was 47, XX, + mar. The CMA results showed that there was no CNVs above 200 kb in the parents. The CMA results of the child showed that the chromosome 10 was repeated in p15. 3 p11. 1, and the fragment size was 38. 39 Mb. In conclusion, this study found a rare small supernumerary marker chromosome(sSMC) on chromosome 10. Its genetic pattern and pathogenicity were analyzed. It is considered that sSMC(10) is the cause of the patient.

Objective:To explore the clinical application value of extended detection method for Y chromosome azoospermia factor (AZF) microdeletion in hereditary infertility and sexual development disorders.Methods:Multiplex polymerase chain reaction(PCR) combined with agarose gel electrophoresis method, combined fluorescence multiplex PCR capillary electrophoresis DNA fragment analysis technique and chromosome karyotype analysis technique were used to detect an infertility patient who visited the Reproductive Center of Henan Provincial People's Hospital in March 2020 (patient 1) and a child with sexual dysplasia who visited the Endocrinology Department of Henan Provincial People's Hospital in June 2020 (patient 2).Results:We found no AZF microdeletions on the Y-chromosome of the two patients to detect 15 sequence tagged site (STS) sequences. To detect the 27 genetic markers, it was found that in patient 1 the amplification peak of the STS locus on the long arm of the X chromosome was nearly three times as much as the amplification peak of the short arm of the X chromosome (Xqp), the STR quality control loci on the long arm of the X chromosome had two peaks, and the ratio was about 2∶1 (GATA31E08 and DXS6809), and the ratio of the amplification peak of the long arm of the X chromosome to that of the autosome at the TAF9b locus was about 3∶2. Patient 1 might have an abnormal copy number of long arm of X chromosome. In patient 2, the ratio of the amplification peak of C03Yp, TAF9b, C01Yq and C11Xp on the X chromosome or Y chromosome to the amplification peak of autosomes was about 1∶1, and the amplification peak of the STR quality control site on the X chromosome was two peaks, and the ratio was about 1∶1 (GATA31E08 and DXS6795). Patient 2 might have abnormal X and Y chromosome copy numbers. The results of karyotype analysis showed that the karyotype of patient 1 was 47, XY, i(X)(q10); the karyotype of patient 2 was 48, XXYY, which was consistent with the results of AZF microdeletion extension test.Conclusion:Compared with the traditional AZF detection method, this extended detection method can not only meet the needs of AZF detection, but also indicate abnormal copy number of sex chromosomes. Compared with the karyotype analysis technology, it has the characteristics of simple operation and can reduce the cost and workload of clinical testing.

Objective:To explore the clinical application value of extended detection method for Y chromosome azoospermia factor (AZF) microdeletion in hereditary infertility and sexual development disorders.Methods:Multiplex polymerase chain reaction(PCR) combined with agarose gel electrophoresis method, combined fluorescence multiplex PCR capillary electrophoresis DNA fragment analysis technique and chromosome karyotype analysis technique were used to detect an infertility patient who visited the Reproductive Center of Henan Provincial People's Hospital in March 2020 (patient 1) and a child with sexual dysplasia who visited the Endocrinology Department of Henan Provincial People's Hospital in June 2020 (patient 2).Results:We found no AZF microdeletions on the Y-chromosome of the two patients to detect 15 sequence tagged site (STS) sequences. To detect the 27 genetic markers, it was found that in patient 1 the amplification peak of the STS locus on the long arm of the X chromosome was nearly three times as much as the amplification peak of the short arm of the X chromosome (Xqp), the STR quality control loci on the long arm of the X chromosome had two peaks, and the ratio was about 2∶1 (GATA31E08 and DXS6809), and the ratio of the amplification peak of the long arm of the X chromosome to that of the autosome at the TAF9b locus was about 3∶2. Patient 1 might have an abnormal copy number of long arm of X chromosome. In patient 2, the ratio of the amplification peak of C03Yp, TAF9b, C01Yq and C11Xp on the X chromosome or Y chromosome to the amplification peak of autosomes was about 1∶1, and the amplification peak of the STR quality control site on the X chromosome was two peaks, and the ratio was about 1∶1 (GATA31E08 and DXS6795). Patient 2 might have abnormal X and Y chromosome copy numbers. The results of karyotype analysis showed that the karyotype of patient 1 was 47, XY, i(X)(q10); the karyotype of patient 2 was 48, XXYY, which was consistent with the results of AZF microdeletion extension test.Conclusion:Compared with the traditional AZF detection method, this extended detection method can not only meet the needs of AZF detection, but also indicate abnormal copy number of sex chromosomes. Compared with the karyotype analysis technology, it has the characteristics of simple operation and can reduce the cost and workload of clinical testing.

Objective:To explore the etiology, clinical diagnosis and treatment strategy of Lesch Nyhan syndrome.Methods:We retrospectively analyzed 2 patients with severe dyskinesia, mental retardation and complicated renal calculi who were admitted to the first people's Hospital of Zhengzhou in August 2019. Case 1, male, 9 years old, had multiple urinary calculi for 1 year. The patient came to the local hospital because double multiple kidney stones and bladder stonesa year ago. The patient had been treated with transurethral holmium laser lithotripsy for bladder stones. The results of infrared spectrum showed that the bladder stone was anhydrous uric acid stone. A week ago, color Doppler ultrasound showed multiple kidney stones and bladder stones. The patient was underdeveloped, mentally retarded and had a full-term cesarean section. There was no history of hypoxia, asphyxia and rescue of the patient. He had the following clinical manifestations: In the waking state, he was no language response to any stimulation. The nasolabial fold on the right was shallow and the corner of the mouth was oblique to the left. He lost the large movements such as lifting head, sitting alone, standing. The trunk showed torsion spasticity, limb muscle strength 2-3, limbs showing spastic hypertonia, limb joints stiff, hands showing fist-like, no involuntary movement and muscle fasciculation. The biceps reflex and knee tendon reflex were not elicited, and the pathological reflex was positive. Serum uric acid was 517 μmol/L. The Case 2 came from the same family, male, 6 years old, had the similar symptoms to his elder brother case 1. The family members complained on behalf of the child about intermittent fever for more than 2 years. The imaging examination of case 2 revealed kidney stones. Serum uric acid was 373 μmol/L. Whole Exome Sequencing and Sanger Sequencing were used to find the genetic causes of the two siblings. The NCBI-Homologene database was used to find the homologous sequence of the human HPRT1 gene, and the human HPRT1 gene sequence was compared with other species to analyze the protein conservation. The online website PredictProtein (http: //www.predactprotein) was used to predict the two-dimensional structure of the HPRT1 gene. The reported cases were summarized and same with the treatment plan.Results:A De novo mutation [c.571T>G(p.Tyr191Asp)] was found in the HPRT1 gene of the child, which was inherited from the mother. Lesch Nyhan syndrome can be diagnosed by the results of gene examination combined with clinical manifestations. The amino acid Tyr at the 191 position and the amino acids before and after it were highly conserved. Amino acid 191 was involved in the β-strand of the protein. We treated the patients with the lowest dose of allopurinol and children's conventional dose of potassium sodium bicitrate granules, and low purine diet. After 3 months of treatment, the serum uric acid was decreased, and the urinary calculi did not increase significantly.Conclusions:Combining with the clinical manifestations of children, HPRT1 gene might be the cause of pediatric disease and the two siblings could be diagnosed as Lesch-Nyhan syndrome. For such patients, the lowest dose of allopurinol and children's conventional dose of potassium sodium hydrogen citrate granule combined with diet could be more effective.

OBJECTIVETo analyze a child with facial abnormalities with combined cytogenetic and molecular techniques and delineate its clinical phenotype.

METHODSNeuropsychological profile of the child was analyzed. Color Doppler, CT and MRI were used for detecting the nodules in the body. Conventional peripheral blood karyotypes of the child and his parents were analyzed with G-banding. Array-comparative genomic hybridization (aCGH) was performed to detect minor structural chromosomal abnormalities.

RESULTSThe child had mental retardation, maxillofacial dysmorphism on the right side, and irregular solid nodules on the back. The karyotypes of the child and his parents were all normal, while aCGH has identified a de novo constitutive 1.2 Mb deletion at 17q11.2 in the child. The aCGH results of his parents were normal.

CONCLUSIONThe de novo 17q11.2 microdeletion probably underlies the facial abnormalities and neurofibromatosis in the patient.

Child, Preschool ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 17 ; genetics ; Comparative Genomic Hybridization ; Humans ; Intellectual Disability ; genetics ; Karyotyping ; Male ; Maxillofacial Abnormalities ; genetics ; Phenotype ; Smith-Magenis Syndrome ; genetics

OBJECTIVETo use combined G-banding and array-comparative genomic hybridization (aCGH) for the prenatal diagnosis of a fetus with 5q35 deletion syndrome.

METHODSChromosomal karotypes of the fetus and parents were analyzed with G-banding analysis. aCGH was performed to detect minor chromosomal structural abnormalities.

RESULTSThe karyotype of the fetus was ascertained as 46, XY, t(5;10)(q35;p13), and the karyotypes of the parents were normal. aCGH has identified a de novo 1.68 Mb deletion at 5q35.2q35.3 and a 1.44 Mb duplication at 10p14p13.

CONCLUSIONaCGH has a higher resolution and greater accuracy for mapping chromosomal aberrations and is a useful supplement for G banding karyptyping analysis.

Adult ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 5 ; genetics ; Comparative Genomic Hybridization ; Cri-du-Chat Syndrome ; diagnosis ; embryology ; genetics ; Female ; Fetal Diseases ; diagnosis ; genetics ; Humans ; Karyotyping ; Male ; Prenatal Diagnosis ; Trisomy ; diagnosis ; genetics

OBJECTIVETo explore the possible roles of polymorphisms of SPO11 and glutathionine S-transferase (GST) genes in idiopathic male infertility in a ethnic Han Chinese population from Henan.

METHODSMultiplex PCR and DNA sequencing were performed to determine the SPO11 c.517C>T(rs28368082) and GST genes (GSTM1, GSTT1, GSTP1) polymorphisms in 216 idiopathic male infertility cases and 198 normal samples.

RESULTSThe frequencies of the SPO11 CC and CT genotypes were 87.5% (189/216) and 12.5% (27/216) in the patients, and 97.5% (193/198) and 2.5% (5/198) in the controls, respectively. The frequencies of SPO11 CC and CT genotypes, the A>G transition at nucleotide 313 in the exon 5 of the GSTP1 gene, and the frequencies of combined genotypes GSTM1 (-/-), GSTT1 (+/+), GSTP1 (AA) and SPO11 (CT) were significantly different between the two groups (P<0.05).

CONCLUSIONThe rs28368082 polymorphism of the SPO11 gene, the A>G transition at nucleotide 313 in the exon 5 of the GSTP1 gene, and the combined genotypes of GSTM1 (-/-), GSTT1 (+/+), GSTP1 (AA) and SPO11 (CT) may be associated with idiopathic male infertility in ethnic Han Chinese.

Adult ; Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Endodeoxyribonucleases ; genetics ; Gene Frequency ; Genetic Predisposition to Disease ; ethnology ; genetics ; Genotype ; Glutathione S-Transferase pi ; genetics ; Glutathione Transferase ; genetics ; Humans ; Infertility, Male ; enzymology ; ethnology ; genetics ; Linkage Disequilibrium ; Male ; Mutation ; Odds Ratio ; Polymorphism, Genetic ; Sequence Analysis, DNA

Objective To discuss cause and treatment measures of the postoperative failed to fully automatic nail in patients with circumcision by disposable circumcision suture device, so as to improve the quality of the circumcision.Methods 182 cases received circumcision by disposable circumcision suture device were randomly selected from September 2014 to March 2015 in the hospital and divided into control group ( n =86 ) and treatment group (n=96).All the patients received oral antibiotics for three days conventionally.Patients in control group were dressing with 0.1%iodine after treatment, dressing change every two or three days, while the treatment group soaking with 30 mL to 40 mL compound prescription cortex phellodendri chinensis fluid for 15 min two times per day.The postoperative wound anastomosis nail loss effect in two groups were compared.Results The time of complete nail loss in patients soaking with compound prescription cortex phellodendri chinensis fluid was significantly shorter than that in patients dressing with 0.1% iodine (P<0.05), but there was no significantly difference of the first time to lose nail between two groups.The rate of complete nail loss in treatment group was 94 cases (97.9%), which was significantly higher than 68 cases (79.1%) in control group (χ2 =16.47,P<0.05). The adverse reactions were mild of two groups.Conclusion The compound prescription cortex phellodendri chinensis fluid has exact effect on postoperative wound anastomosis nail loss and recovery in patients’ with circumcision by disposable circumcision suture device.

BACKGROUND:Knee osteoarthritis can be treated by total knee arthroplasty. To improve therapeutic effect and promote postoperative recovery, we should take effective measures to improve the joint space and postoperative range of motion.
OBJECTIVE:To explore the effectiveness and feasibility of posterior composite release of the knee joint after total knee arthroplasty.
METHODS:118 knee osteoarthritis patients undergoing unilateral total knee arthroplasty in two hospitals from December 2009 to December 2013 were selected, and were randomly divided into control group (59 cases) and observation group (59 cases). After osteotomy during operation, the control group underwent bone removal of conventional condylar hyperplasia. Observation group underwent posterior composite release of the knee joint. Postoperative extension, flexion gap and the time required for postoperative active flexion 90° and 120° were observed in the two groups. Hospital for Special Surgery Knee Score and maximum flexion angle were recorded in 3 months of fol ow up, and compared between the two groups. RESULTS AND CONCLUSION:Through the statistics and comparison, no significant difference in flexion gap was found between the two groups (P>0.05). However, significant differences in extension gap, the time for active flexion 90° and 120°and the maximum flexion angle were detectable between the two groups, and above indexes were better in the observation group than in the control group (P<0.05). Hospital for Special Surgery Knee Score of each index and total score were significantly higher in the observation group than in the control group (P<0.05). These results suggest that rear joint composite release after total knee arthroplasty has certain validity and feasibility, can effectively improve knee extensor gap and the postoperative range of motion during replacement, but does not impact flexion gap during replacement.